Leptin receptor (LEPR) SNP polymorphisms in HELLP syndrome patients determined by quantitative real-time PCR and melting curve analysis

<p>Abstract</p> <p>Background</p> <p>Several studies have shown overexpression of leptin in microarray experiments in pre-eclampsia (PE) and in hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome. We decided to study four leptin receptor (<it>LEPR<...

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Main Authors: Than Nándor (Author), Molvarec Attila (Author), Lázár Levente (Author), Várkonyi Tibor (Author), Rigó János (Author), Nagy Bálint (Author)
Format: Book
Published: BMC, 2010-02-01T00:00:00Z.
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Summary:<p>Abstract</p> <p>Background</p> <p>Several studies have shown overexpression of leptin in microarray experiments in pre-eclampsia (PE) and in hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome. We decided to study four leptin receptor (<it>LEPR</it>) SNP polymorphisms in HELLP syndrome patients by using quantitative real-time PCR and melting curve analysis.</p> <p>Methods</p> <p>DNA was isolated from blood samples from 83 normotensive pregnant women and 75 HELLP syndrome patients. Four SNPs, <it>LEPR c.326A>G </it>(K109), <it>LEPR c.668A>G </it>(Q223R), <it>LEPR c.1968G>C </it>(K656N) and <it>LEPR c.3024A>G </it>(S1008) were determined by quantitative real-time PCR and melting curve analysis. Investigators were blinded to clinical outcomes.</p> <p>Results</p> <p><it>LEPR c.326A>G</it>, <it>LEPR c.668A>G</it>, <it>LEPR c.1968G>C </it>and <it>LEPR c.3024A>G </it>allele, genotype and haplotype polymorphisms were not different in HELLP syndrome patients and normotensive healthy pregnants. There were strong linkage disequilibrium (LD) between loci <it>c.326A>G </it>and <it>c.6687A>G </it>(D' = 0.974), and <it>c.668A>G </it>and <it>c.1968G>C </it>(D' = 0.934), and <it>c.326A>G </it>and <it>c.1968G>C </it>(D' = 0.885), and <it>c.1968G>C </it>and <it>c.3024A>G </it>(D' = 1.0). However, linkages of <it>c.3024A>G </it>with <it>c.668A>G </it>(D' = 0.111) and <it>c.326A>G </it>(D' = 0.398) were weak. The Hardy-Weinberg equilibrium was observed for all polymorphisms. However the <it>LEPR c.326A>G AG </it>genotype was twice more frequent and the (AG AG GG AG) haplotype was three times more frequent in HELLP syndrome patients. The introduced quantitative real-time PCR combined with melting curve analysis is a fast and reliable method for the determination of <it>LEPR </it>SNPs.</p> <p>Conclusion</p> <p>Although certain <it>LEPR </it>haplotypes are more frequent in HELLP syndrome, we conclude that there is no compelling evidence that the four studied <it>LEPR </it>SNP polymorphisms associated with the development of HELLP syndrome.</p>
Item Description:10.1186/1471-2350-11-25
1471-2350